Curtis A, Nelson R, Porteous M, Burn J, Bhattacharya S S
Department of Human Genetics, University of Newcastle upon Tyne.
J Med Genet. 1991 Jan;28(1):34-7. doi: 10.1136/jmg.28.1.34.
A majority of cystic fibrosis (CF) genes (70 to 75%) share a single mutation, but the remaining 25 to 30% of defects are accounted for by more than 20 different mutations. One of the less frequent mutations, G551D, has been identified in the CF genes of two sibs and one unrelated adult patient. The adult patient also has a second rare mutation, delta I507. All three subjects exhibit a less severe phenotype than that normally associated with CF. This supports a hypothesis that the common mutation (delta F508) is responsible for the severe form of the disorder, and the minority of patients with a milder form tend to have mutations at other sites in the CF gene.
大多数囊性纤维化（CF）基因（70%至75%）存在单一突变，但其余25%至30%的缺陷是由20多种不同突变造成的。较罕见的突变之一G551D在两名同胞和一名无血缘关系的成年患者的CF基因中被发现。该成年患者还存在另一种罕见突变，即I507缺失。所有三名受试者表现出的表型都比通常与CF相关的表型症状较轻。这支持了一种假说，即常见突变（F508缺失）导致了该疾病的严重形式，而症状较轻的少数患者往往在CF基因的其他位点存在突变。
